Evidence for somatic gene conversion and deletion in bipolar disorder, Crohn's disease, coronary artery disease, hypertension, rheumatoid arthritis, type-1 diabetes, and type-2 diabetes

BMC Medicine

Volumn 9, Issue , 2011, Pages

  Ross, Kenneth A ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIPOLAR DISORDER; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CROHN DISEASE; FEMALE; GENE CONVERSION; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HYPERTENSION; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; AUTOIMMUNE DISEASE; CARDIOVASCULAR DISEASE; GENETICS;

AUTOIMMUNE DISEASES; BIPOLAR DISORDER; CARDIOVASCULAR DISEASES; CROHN DISEASE; DIABETES MELLITUS, TYPE 2; GENE CONVERSION; GENE DELETION; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79551545345     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/1741-7015-9-12     Document Type: Article

References (217)

1. Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP. Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet 2007, 8:762-775. 10.1038/nrg2193, 17846636.
2. Johnson RD, Jasin M. Double-strand-break-induced homologous recombination in mammalian cells. Biochem Soc Trans 2001, 29:196-201. 10.1042/BST0290196, 11356153.
3. Lagerstedt K, Karsten SL, Carlberg BM, Kleijer WJ, Tönnesen T, Pettersson U, Bondeson ML. Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome. Hum Mol Genet 1997, 6:627-633. 10.1093/hmg/6.4.627, 9097969.
4. Bunge S, Rathmann M, Steglich C, Bondeson ML, Tylki-Szymanska A, Popowska E, Gal A. Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II. Eur J Hum Genet 1998, 6:492-500. 10.1038/sj.ejhg.5200213, 9801874.
5. Colot V, Maloisel L, Rossignol JL. Interchromosomal transfer of epigenetic states in Ascobolus: transfer of DNA methylation is mechanistically related to homologous recombination. Cell 1996, 86:855-864. 10.1016/S0092-8674(00)80161-0, 8808621.
6. Jeffreys AJ, May CA. Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat Genet 2004, 36:151-156. 10.1038/ng1287, 14704667.
7. Catasti P, Chen X, Mariappan SV, Bradbury EM, Gupta G. DNA repeats in the human genome. Genetica 1999, 106:15-36. 10.1023/A:1003716509180, 10710707.
8. Tan Y, Zhang B, Wu T, Skogerbø G, Zhu X, Guo X, He S, Chen R. Transcriptional inhibiton of Hoxd4 expression by miRNA-10a in human breast cancer cells. BMC Mol Biol 2009, 10:12. 10.1186/1471-2199-10-12, 2680403, 19232136.
9. Hawkins PG, Morris KV. RNA and transcriptional modulation of gene expression. Cell Cycle 2008, 7:602-607. 10.4161/cc.7.5.5522, 2877389, 18256543.
10. Wall JD. Close look at gene conversion hot spots. Nat Genet 2004, 36:114-115. 10.1038/ng0204-114, 14752518.
11. The Wellcome Trust Case Control Consortium Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. 10.1038/nature05911, 2719288, 17554300, The Wellcome Trust Case Control Consortium.
12. Sonoda E, Sasaki MS, Morrison C, Yamaguchi-Iwai Y, Takata M, Takeda S. Sister chromatid exchanges are mediated by homologous recombination in vertebrate cells. Mol Cell Biol 1999, 19:5166-5169. 84359, 10373565.
13. Wilcosky T, Rynard S. Sister chromatid exchange. Biological Markers in Epidemiology 1990, New York: Oxford University Press, Hulka B, Wilcosky T, Griffth J.
14. Kang MH, Genser D, Elmadfa I. Increased sister chromatid exchanges in peripheral lymphocytes of patients with Crohn's disease. Mutat Res 1997, 381:141-148.
15. Pernice F, Floccari F, Caccamo C, Belghity N, Mantuano S, Pacilè ME, Romeo A, Nostro L, Barillà A, Crascì E, Frisina N, Buemi M. Chromosomal damage and atherosclerosis. A protective effect from simvastatin. Eur J Pharmacol 2006, 532:223-229. 10.1016/j.ejphar.2006.01.003, 16483569.
16. Cinkilic N, Kiyici S, Celikler S, Vatan O, Oz Gul O, Tuncel E, Bilaloglu R. Evaluation of chromosome aberrations, sister chromatid exchange and micronuclei in patients with type-1 diabetes mellitus. Mutat Res 2009, 676:1-4.
17. Sheth F, Patel P, Vaidya A, Vaidya R, Sheth J. Increased frequency of sister chromatid exchanges in patients with type II diabetes. Curr Sci 2006, 90:236-240.
18. Jarmalaite S, Mierauskiene J, Beitas K, Ranceva J, Lazutka JR, Butrimiene I. Sister chromatid exchanges and cell proliferative abilities in cultured peripheral blood lymphocytes of patients with rheumatoid and reactive arthritis. Clin Exp Rheumatol 2006, 24:677-682.
19. Vormittag W. Structural chromosomal aberration rates and sister-chromatid exchange frequencies in females with type 2 (non-insulin-dependent) diabetes. Mutat Res 1985, 143:117-119. 10.1016/S0165-7992(85)80020-8, 4010691.
20. Senécal-Quevillon M, Duquette P, Richer CL. Analysis of sister-chromatid exchanges (SCEs) in familial and sporadic multiple sclerosis. Mutat Res 1986, 161:65-74.
21. Palmer RG, Doré CJ, Henderson L, Denman AM. Sister-chromatid exchange frequencies in fibroblasts and lymphocytes of patients with systemic lupus erythematosus. Mutat Res 1987, 177:125-132.
22. Palmer RG, Doré CJ, Denman AM. Sister-chromatid exchange frequencies in lymphocytes of controls and patients with connective tissue diseases. Mutat Res 1986, 162:113-120.
23. Liang F, Han M, Romanienko PJ, Jasin M. Homology-directed repair is a major double-strand break repair pathway in mammalian cells. Proc Natl Acad Sci USA 1998, 95:5172-5177. 10.1073/pnas.95.9.5172, 20233, 9560248.
24. McLendon R, Friedman A, Bigner D, Van Meir EG, Brat DJ, Mastrogianakis GM, Olson JJ, Mikkelsen T, Lehman N, Aldape K, Yung WK, Bogler O, Weinstein JN, VandenBerg S, Berger M, Prados M, Muzny D, Morgan M, Scherer S, Sabo A, Nazareth L, Lewis L, Hall O, Zhu Y, Ren Y, Alvi O, Yao J, Hawes A, Jhangiani S, Fowler G, et al. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008, 455:1061-1068. 10.1038/nature07385, 2671642, 18772890.
25. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 2001, 11:1005-1017. 10.1101/gr.GR-1871R, 311093, 11381028.
26. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951. 10.1038/ng1416, 15286789.
27. Rubin GL, Sharp S, Jones AL, Glatt H, Mills JA, Coughtrie MW. Design, production and characterization of antibodies discriminating between the phenol- and monoamine-sulphating forms of human phenol sulphotransferase. Xenobiotica 1996, 26:1113-1119. 10.3109/00498259609050256, 8948087.
28. Eisenhofer G, Coughtrie MW, Goldstein DS. Dopamine sulphate: an enigma resolved. Clin Exp Pharmacol Physiol Suppl 1999, 26:41-53.
29. Langmann T, Moehle C, Mauerer R, Scharl M, Liebisch G, Zahn A, Stremmel W, Schmitz G. Loss of detoxification in inammatory bowel disease: dysregulation of pregnane × receptor target genes. Gastroenterology 2004, 127:26-40. 10.1053/j.gastro.2004.04.019, 15236169.
30. Imielinski M, Baldassano RN, Griffths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, Castro M, Latiano A, Dallapiccola B, Stempak J, Abrams DJ, Taylor K, McGovern D, Heyman MB, et al. Common variants at five new loci associated with early-onset inammatory bowel disease. Nat Genet 2009, 41:1335-1340. 10.1038/ng.489, 19915574.
31. Nakamura T, Watanabe A, Fujino T, Hosono T, Michikawa M. Apolipoprotein E4(1-272) fragment is associated with mitochondrial proteins and affects mitochondrial function in neuronal cells. Mol Neurodegener 2009, 4:35. 10.1186/1750-1326-4-35, 2739857, 19695092.
32. Restivo NL, Srivastava MD, Schafer IA, Hoppel CL. Mitochondrial dysfunction in a patient with crohn disease: possible role in pathogenesis. J Pediatr Gastroenterol Nutr 2004, 38:534-538. 10.1097/00005176-200405000-00014, 15097444.
33. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638. 10.1093/hmg/ddm376, 18156158.
34. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675. 10.1056/NEJMoa075974, 18184952.
35. Wakefield AJ, Ashwood P, Limb K, Anthony A. The significance of ileo-colonic lymphoid nodular hyperplasia in children with autistic spectrum disorder. Eur J Gastroenterol Hepatol 2005, 17:827-836. 10.1097/00042737-200508000-00009, 16003132.
36. Tsao CY, Mendell JR. Autistic disorder in 2 children with mitochondrial disorders. J Child Neurol 2007, 22:1121-1123. 10.1177/0883073807306266, 17890412.
37. Oliveira G, Diogo L, Grazina M, Garcia P, Ataíde A, Marques C, Miguel T, Borges L, Vicente AM, Oliveira CR. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol 2005, 47:185-189. 10.1017/S0012162205000332, 15739723.
38. Crouzet J, Levy-Schil S, Cameron B, Cauchois L, Rigault S, Rouyez MC, Blanche F, Debussche L, Thibaut D. Nucleotide sequence and genetic analysis of a 13.1-kilobase-pair Pseudomonas denitrificans DNA fragment containing five cob genes and identification of structural genes encoding Cob(I)alamin adenosyltransferase, cobyric acid synthase, and bifunctional cobinamide kinase-cobinamide phosphate guanylyltransferase. J Bacteriol 1991, 173:6074-6087. 208354, 1655697.
39. Rodionov DA, Vitreschak AG, Mironov AA, Gelfand MS. Comparative genomics of the vitamin B12 metabolism and regulation in prokaryotes. J Biol Chem 2003, 278:41148-41159. 10.1074/jbc.M305837200, 12869542.
40. Heldt D, Lawrence AD, Lindenmeyer M, Deery E, Heathcote P, Rigby SE, Warren MJ. Aerobic synthesis of vitamin B12: ring contraction and cobalt chelation. Biochem Soc Trans 2005, 33:815-819. 10.1042/BST0330815, 16042605.
41. Christensen PA, Brynskov J, Gimsing P, Petersen J. Vitamin B12 binding proteins (transcobalamin and haptocorrin) in serum and synovial uid of patients with rheumatoid arthritis and traumatic synovitis. Scand J Rheumatol 1983, 12:268-272. 10.3109/03009748309098548, 6623017.
42. Sattar MA, Das KC. Plasma vitamin B12 binding proteins correlate with disease activity in patients with rheumatoid arthritis. Med Lab Sci 1991, 48:36-42.
43. Segal R, Baumoehl Y, Elkayam O, Levartovsky D, Litinsky I, Paran D, Wigler I, Habot B, Leibovitz A, Sela BA, Caspi D. Anemia, serum vitamin B12, and folic acid in patients with rheumatoid arthritis, psoriatic arthritis, and systemic lupus erythematosus. Rheumatol Int 2004, 24:14-19. 10.1007/s00296-003-0323-2, 12720045.
44. Yamashiki M, Nishimura A, Kosaka Y. Effects of methylcobalamin (vitamin B12) on in vitro cytokine production of peripheral blood mononuclear cells. J Clin Lab Immunol 1992, 37:173-182.
45. Lazzerini PE, Capecchi PL, Selvi E, Lorenzini S, Bisogno S, Galeazzi M, Laghi Pasini F. Hyperhomocysteinemia: a cardiovascular risk factor in autoimmune diseases?. Lupus 2007, 16:852-862. 10.1177/0961203307084176, 17971357.
46. Beyersmann D, Hartwig A. The genetic toxicology of cobalt. Toxicol Appl Pharmacol 1992, 115:137-145. 10.1016/0041-008X(92)90377-5, 1631889.
47. Gong J, Sun Z, Li P. CIDE proteins and metabolic disorders. Curr Opin Lipidol 2009, 20:121-126. 10.1097/MOL.0b013e328328d0bb, 19276890.
48. Nordström EA, Rydén M, Backlund EC, Dahlman I, Kaaman M, Blomqvist L, Cannon B, Nedergaard J, Arner P. A human-specific role of cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) in adipocyte lipolysis and obesity. Diabetes 2005, 54:1726-1734.
49. Puri V, Ranjit S, Konda S, Nicoloro SM, Straubhaar J, Chawla A, Chouinard M, Lin C, Burkart A, Corvera S, Perugini RA, Czech MP. Cidea is associated with lipid droplets and insulin sensitivity in humans. Proc Natl Acad Sci USA 2008, 105:7833-7838. 10.1073/pnas.0802063105, 2409392, 18509062.
50. Van Gaal LF, Mertens IL, De Block CE. Mechanisms linking obesity with cardiovascular disease. Nature 2006, 444:875-880. 10.1038/nature05487, 17167476.
51. Shin C, Manley JL. The SR protein SRp38 represses splicing in M phase cells. Cell 2002, 111:407-417. 10.1016/S0092-8674(02)01038-3, 12419250.
52. Blencowe BJ. Splicing regulation: the cell cycle connection. Curr Biol 2003, 13:R149-151. 10.1016/S0960-9822(03)00079-4, 12593819.
53. Shin C, Feng Y, Manley JL. Dephosphorylated SRp38 acts as a splicing repressor in response to heat shock. Nature 2004, 427:553-558. 10.1038/nature02288, 14765198.
54. Feng Y, Valley MT, Lazar J, Yang AL, Bronson RT, Firestein S, Coetzee WA, Manley JL. SRp38 regulates alternative splicing and is required for Ca(2+) handling in the embryonic heart. Dev Cell 2009, 16:528-538. 10.1016/j.devcel.2009.02.009, 2688787, 19386262.
55. Fox AH, Bond CS, Lamond AI. P54nrb forms a heterodimer with PSP1 that localizes to paraspeckles in an RNA-dependent manner. Mol Biol Cell 2005, 16:5304-5315. 10.1091/mbc.E05-06-0587, 1266428, 16148043.
56. Prasanth KV, Prasanth SG, Xuan Z, Hearn S, Freier SM, Bennett CF, Zhang MQ, Spector DL. Regulating gene expression through RNA nuclear retention. Cell 2005, 123:249-263. 10.1016/j.cell.2005.08.033, 16239143.
57. Devés R, Boyd CA. Transporters for cationic amino acids in animal cells: discovery, structure, and function. Physiol Rev 1998, 78:487-545.
58. Steinberg HO, Baron AD. Vascular function, insulin resistance and fatty acids. Diabetologia 2002, 45:623-634. 10.1007/s00125-002-0800-2, 12107742.
59. Cleland SJ, Petrie JR, Ueda S, Elliott HL, Connell JM. Insulin as a vascular hormone: implications for the pathophysiology of cardiovascular disease. Clin Exp Pharmacol Physiol 1998, 25:175-184. 10.1111/j.1440-1681.1998.t01-15-.x, 9590566.
60. González M, Flores C, Pearson JD, Casanello P, Sobrevia L. Cell signalling-mediating insulin increase of mRNA expression for cationic amino acid transporters-1 and -2 and membrane hyperpolarization in human umbilical vein endothelial cells. Pugers Arch 2004, 448:383-394.
61. Muñoz M, Sweiry JH, Mann GE. Insulin stimulates cationic amino acid transport activity in the isolated perfused rat pancreas. Exp Physiol 1995, 80:745-753.
62. McCord N, Ayuk P, McMahon M, Boyd RC, Sargent I, Redman C. System y+ arginine transport and NO production in peripheral blood mononuclear cells in pregnancy and preeclampsia. Hypertension 2006, 47:109-115. 10.1161/01.HYP.0000197952.22711.c4, 16344361.
63. Yanik M, Vural H, Tutkun H, Zoroǧlu SS, Savaş HA, Herken H, Koçyiǧit A, Keleş H, Akyol O. The role of the arginine-nitric oxide pathway in the pathogenesis of bipolar affective disorder. Eur Arch Psychiatry Clin Neurosci 2004, 254:43-47. 10.1007/s00406-004-0453-x, 14991378.
64. Hoekstra R, Fekkes D, Pepplinkhuizen L, Loonen AJ, Tuinier S, Verhoeven WM. Nitric oxide and neopterin in bipolar affective disorder. Neuropsychobiology 2006, 54:75-81. 10.1159/000096042, 17028447.
65. Colin Y, Le Van Kim C, Tsapis A, Clerget M, d'Auriol L, London J, Galibert F, Cartron JP. Human erythrocyte glycophorin C. Gene structure and rearrangement in genetic variants. J Biol Chem 1989, 264:3773-3780.
66. Colin Y. Gerbich blood groups and minor glycophorins of human erythrocytes. Transfus Clin Biol 1995, 2:259-268. 10.1016/S1246-7820(05)80092-8, 8542024.
67. Sanguinetti MC, Jiang C, Curran ME, Keating MT. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 1995, 81:299-307. 10.1016/0092-8674(95)90340-2, 7736582.
68. Kupershmidt S, Yang IC, Hayashi K, Wei J, Chanthaphaychith S, Petersen CI, Johns DC, George AL, Roden DM, Balser JR. The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. FASEB J 2003, 17:2263-2265.
69. Nakajima T, Hayashi K, Viswanathan PC, Kim MY, Anghelescu M, Barksdale KA, Shuai W, Balser JR, Kupershmidt S. HERG is protected from pharmacological block by alpha-1,2-glucosyltransferase function. J Biol Chem 2007, 282:5506-5513. 10.1074/jbc.M605976200, 17189275.
70. Michels G, Er F, Khan IF, Endres-Becker J, Brandt MC, Gassanov N, Johns DC, Hoppe UC. K+ channel regulator KCR1 suppresses heart rhythm by modulating the pacemaker current If. PLoS ONE 2008, 3:e1511. 10.1371/journal.pone.0001511, 2204056, 18231597.
71. Petersen CI, McFarland TR, Stepanovic SZ, Yang P, Reiner DJ, Hayashi K, George AL, Roden DM, Thomas JH, Balser JR. In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. Proc Natl Acad Sci USA 2004, 101:11773-11778. 10.1073/pnas.0306005101, 511051, 15280551.
72. Bonifacino JS, Hurley JH. Retromer. Curr Opin Cell Biol 2008, 20:427-436. 10.1016/j.ceb.2008.03.009, 2833274, 18472259.
73. Zhao X, Nothwehr S, Lara-Lemus R, Zhang BY, Peter H, Arvan P. Dominant-negative behavior of mammalian Vps35 in yeast requires a conserved PRLYL motif involved in retromer assembly. Traffic 2007, 8:1829-1840. 10.1111/j.1600-0854.2007.00658.x, 2532708, 17916227.
74. Berggren S, Gall C, Wollnitz N, Ekelund M, Karlbom U, Hoogstraate J, Schrenk D, Lennernäs H. Gene and protein expression of P-glycoprotein, MRP1, MRP2, and CYP3A4 in the small and large human intestine. Mol Pharm 2007, 4:252-257. 10.1021/mp0600687, 17263554.
75. Wagner LA, Christensen CJ, Dunn DM, Spangrude GJ, Georgelas A, Kelley L, Esplin MS, Weiss RB, Gleich GJ. EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression. Blood 2007, 109:5191-5198. 10.1182/blood-2006-06-027987, 1890841, 17351112.
76. Lee B, Gai W, Laychock SG. Proteasomal activation mediates down-regulation of inositol 1,4,5-trisphosphate receptor and calcium mobilization in rat pancreatic islets. Endocrinology 2001, 142:1744-1751. 10.1210/en.142.5.1744, 11316737.
77. Roach JC, Deutsch K, Li S, Siegel AF, Bekris LM, Einhaus DC, Sheridan CM, Glusman G, Hood L, Lernmark A, Janer M. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. Am J Hum Genet 2006, 79:614-627. 10.1086/507876, 1592562, 16960798.
78. Qu HQ, Marchand L, Szymborski A, Grabs R, Polychronakos C. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II. Genes Immun 2008, 9:264-266. 10.1038/gene.2008.12, 18340361.
79. Howson JM, Walker NM, Clayton D, Todd JA. Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A. Diabetes Obes Metab 2009, 11(Suppl 1):31-45. 10.1111/j.1463-1326.2008.01001.x, 2779837, 19143813.
80. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, Sklar P, Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, Sklar P, Purcell SM, Stone JL, Sullivan PF, Ruderfer DM, McQuillin A, Morris DW, O'Dushlaine CT, Corvin A, Holmans PA, O'Donovan MC, Sklar P, Wray NR, Macgregor S, Sklar P, Sullivan PF, O'Donovan MC, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009, 460:748-752.
81. Duthie SJ, Hawdon A. DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro. FASEB J 1998, 12:1491-1497.
82. Wahlestedt C. Natural antisense and noncoding RNA transcripts as potential drug targets. Drug Discov Today 2006, 11:503-508. 10.1016/j.drudis.2006.04.013, 16713901.
83. Yelin R, Dahary D, Sorek R, Levanon EY, Goldstein O, Shoshan A, Diber A, Biton S, Tamir Y, Khosravi R, Nemzer S, Pinner E, Walach S, Bernstein J, Savitsky K, Rotman G. Widespread occurrence of antisense transcription in the human genome. Nat Biotechnol 2003, 21:379-386. 10.1038/nbt808, 12640466.
84. Demirhan O, Tastemir D, Sertdemir Y. The expression of folate sensitive fragile sites in patients with bipolar disorder. Yonsei Med J 2009, 50:137-141. 10.3349/ymj.2009.50.1.137, 2649857, 19259360.
85. Kempisty B, Sikora J, Lianeri M, Szczepankiewicz A, Czerski P, Hauser J, Jagodzinski PP. G polymorphisms are associated with bipolar disorder and schizophrenia. Psychiatr Genet 2007, 17:177-181. 10.1097/YPG.0b013e328029826f, 17417062.
86. Markan S, Sachdeva M, Sehrawat BS, Kumari S, Jain S, Khullar M. MTHFR 677 CT/MTHFR 1298 CC genotypes are associated with increased risk of hypertension in Indians. Mol Cell Biochem 2007, 302:125-131. 10.1007/s11010-007-9434-5, 17333388.
87. Gilbody S, Lewis S, Lightfoot T. Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol 2007, 165:1-13. 10.1093/aje/kwj347, 17074966.
88. Stehouwer CD, van Guldener C. Does homocysteine cause hypertension?. Clin Chem Lab Med 2003, 41:1408-1411. 10.1515/CCLM.2003.216, 14656018.
89. Forman JP, Rimm EB, Stampfer MJ, Curhan GC. Folate intake and the risk of incident hypertension among US women. JAMA 2005, 293:320-329. 10.1001/jama.293.3.320, 15657325.
90. Serra-Pagès C, Medley QG, Tang M, Hart A, Streuli M. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. J Biol Chem 1998, 273:15611-15620.
91. Kriajevska M, Fischer-Larsen M, Moertz E, Vorm O, Tulchinsky E, Grigorian M, Ambartsumian N, Lukanidin E. Liprin beta 1, a member of the family of LAR transmembrane tyrosine phosphatase-interacting proteins, is a new target for the metastasis-associated protein S100A4 (Mts1). J Biol Chem 2002, 277:5229-5235. 10.1074/jbc.M110976200, 11836260.
92. Greenway S, van Suylen RJ, Du Marchie Sarvaas G, Kwan E, Ambartsumian N, Lukanidin E, Rabinovitch M. S100A4/Mts1 produces murine pulmonary artery changes resembling plexogenic arteriopathy and is increased in human plexogenic arteriopathy. Am J Pathol 2004, 164:253-262. 10.1016/S0002-9440(10)63115-X, 1602221, 14695338.
93. Kwapiszewska G, Wilhelm J, Wolff S, Laumanns I, Koenig IR, Ziegler A, Seeger W, Bohle RM, Weissmann N, Fink L. Expression profiling of laser-microdissected intrapulmonary arteries in hypoxia-induced pulmonary hypertension. Respir Res 2005, 6:109. 10.1186/1465-9921-6-109, 1261535, 16171515.
94. Kitao A, Sato Y, Sawada-Kitamura S, Harada K, Sasaki M, Morikawa H, Shiomi S, Honda M, Matsui O, Nakanuma Y. Endothelial to mesenchymal transition via transforming growth factor-beta1/Smad activation is associated with portal venous stenosis in idiopathic portal hypertension. Am J Pathol 2009, 175:616-626. 10.2353/ajpath.2009.081061, 2716961, 19608867.
95. Farmer DG, Kennedy S. RAGE, vascular tone and vascular disease. Pharmacol Ther 2009, 124:185-94. 10.1016/j.pharmthera.2009.06.013, 19616578.
96. Hamilton AT, Huntley S, Tran-Gyamfi M, Baggott DM, Gordon L, Stubbs L. Evolutionary expansion and divergence in the ZNF91 subfamily of primate-specific zinc finger genes. Genome Res 2006, 16:584-594. 10.1101/gr.4843906, 1457049, 16606703.
97. Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B, Prokopenko I, Farrall M, Dominiczak A, Johnson T, Bergmann S, Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN, Morris AD, Ouwehand WH, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas P, Sandhu MS, et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 2008, 40:575-583. 10.1038/ng.121, 2681221, 18391952.
98. Dammai V, Subramani S. The human peroxisomal targeting signal receptor, Pex5p, is translocated into the peroxisomal matrix and recycled to the cytosol. Cell 2001, 105:187-196. 10.1016/S0092-8674(01)00310-5, 11336669.
99. Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet 1995, 9:115-125. 10.1038/ng0295-115, 7719337.
100. Infante JP, Huszagh VA. Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. Mol Genet Metab 2001, 72:1-7. 10.1006/mgme.2000.3101, 11161822.
101. Hulshagen L, Krysko O, Bottelbergs A, Huyghe S, Klein R, Van Veldhoven PP, De Deyn PP, D'Hooge R, Hartmann D, Baes M. Absence of functional peroxisomes from mouse CNS causes dysmyelination and axon degeneration. J Neurosci 2008, 28:4015-4027. 10.1523/JNEUROSCI.4968-07.2008, 18400901.
102. Bruno S, Cercignani M, Ron MA. White matter abnormalities in bipolar disorder: a voxel-based diffusion tensor imaging study. Bipolar Disord 2008, 10:460-468. 10.1111/j.1399-5618.2007.00552.x, 18452442.
103. Hutchinson M, Stack J, Buckley P. Bipolar affective disorder prior to the onset of multiple sclerosis. Acta Neurol Scand 1993, 88:388-393. 10.1111/j.1600-0404.1993.tb05365.x, 8116337.
104. Minden SL, Schiffer RB. Affective disorders in multiple sclerosis. Review and recommendations for clinical research. Arch Neurol 1990, 47:98-104.
105. Lan MJ, Yuan P, Chen G, Manji HK. Neuronal peroxisome proliferator-activated receptor gamma signaling: regulation by mood-stabilizer valproate. J Mol Neurosci 2008, 35:225-234. 10.1007/s12031-008-9056-8, 2804882, 18437585.
106. Katoh M, Katoh M. STAT3-induced WNT5A signaling loop in embryonic stem cells, adult normal tissues, chronic persistent inflammation, rheumatoid arthritis and cancer (Review). Int J Mol Med 2007, 19:273-278.
107. Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K. LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 2004, 49:80-86. 10.1007/s10038-003-0111-6, 14727154.
108. Smith AJ, Gidley J, Sandy JR, Perry MJ, Elson CJ, Kirwan JR, Spector TD, Doherty M, Bidwell JL, Mansell JP. Haplotypes of the low-density lipoprotein receptor-related protein 5 (LRP5) gene: are they a risk factor in osteoarthritis?. Osteoarthr Cartil 2005, 13:608-613. 10.1016/j.joca.2005.01.008, 15979013.
109. Bera TK, Liu XF, Yamada M, Gavrilova O, Mezey E, Tessarollo L, Anver M, Hahn Y, Lee B, Pastan I. A model for obesity and gigantism due to disruption of the Ankrd26 gene. Proc Natl Acad Sci USA 2008, 105:270-275. 10.1073/pnas.0710978105, 2224199, 18162531.
110. Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM. Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci USA 2009, 106:9703-9708. 10.1073/pnas.0900221106, 2701000, 19497859.
111. Sonnemann KJ, Fitzsimons DP, Patel JR, Liu Y, Schneider MF, Moss RL, Ervasti JM. Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy. Dev Cell 2006, 11:387-397. 10.1016/j.devcel.2006.07.001, 16950128.
112. von Arx P, Bantle S, Soldati T, Perriard JC. Dominant negative effect of cytoplasmic actin isoproteins on cardiomyocyte cytoarchitecture and function. J Cell Biol 1995, 131:1759-1773. 10.1083/jcb.131.6.1759, 2120671, 8557743.
113. Lloyd CM, Berendse M, Lloyd DG, Schevzov G, Grounds MD. A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly. Exp Cell Res 2004, 297:82-96. 10.1016/j.yexcr.2004.02.012, 15194427.
114. Zhang K, Chen B, Wu G. Study of differential expressed genes in vascular endothelial cell line ECV304 induced by low density lipoprotein. Zhonghua Yi Xue Za Zhi 2000, 80:784-786.
115. Gey KF, Ducimetière P, Evans A, Amouyel P, Arveiler D, Ferrières J, Luc G, Kee F, Bingham A, Yarnell J, Cambien F. Low plasma retinol predicts coronary events in healthy middle-aged men: The PRIME Study. Atherosclerosis 2010, 208:270-4. 10.1016/j.atherosclerosis.2009.07.018, 19660753.
116. Frank O, Giehl M, Zheng C, Hehlmann R, Leib-Mösch C, Seifarth W. Human endogenous retrovirus expression profiles in samples from brains of patients with schizophrenia and bipolar disorders. J Virol 2005, 79:10890-10901. 10.1128/JVI.79.17.10890-10901.2005, 1193590, 16103141.
117. Huang WJ, Liu ZC, Wei W, Wang GH, Wu JG, Zhu F. Human endogenous retroviral pol RNA and protein detected and identified in the blood of individuals with schizophrenia. Schizophr Res 2006, 83:193-199. 10.1016/j.schres.2006.01.007, 16531011.
118. Plant KE, Routledge SJ, Proudfoot NJ. Intergenic transcription in the human beta-globin gene cluster. Mol Cell Biol 2001, 21:6507-6514. 10.1128/MCB.21.19.6507-6514.2001, 99797, 11533239.
119. Rice DS, Northcutt GM, Kurschner C. The Lnx family proteins function as molecular scaffolds for Numb family proteins. Mol Cell Neurosci 2001, 18:525-540. 10.1006/mcne.2001.1024, 11922143.
120. Higa S, Tokoro T, Inoue E, Kitajima I, Ohtsuka T. The active zone protein CAST directly associates with Ligand-of-Numb protein X. Biochem Biophys Res Commun 2007, 354:686-692. 10.1016/j.bbrc.2007.01.036, 17257582.
121. Sollerbrant K, Raschperger E, Mirza M, Engstrom U, Philipson L, Ljungdahl PO, Pettersson RF. The Coxsackievirus and adenovirus receptor (CAR) forms a complex with the PDZ domain-containing protein ligand-of-numb protein-X (LNX). J Biol Chem 2003, 278:7439-7444. 10.1074/jbc.M205927200, 12468544.
122. Liu L, Liu Y, Tong W, Ye H, Zhang X, Cao W, Zhang Y. Pathogen burden in essential hypertension. Circ J 2007, 71:1761-1764. 10.1253/circj.71.1761, 17965498.
123. Saeki K, Fukuyama S, Ayada T, Nakaya M, Aki D, Takaesu G, Hanada T, Matsumura Y, Kobayashi T, Nakagawa R, Yoshimura A. A major lipid raft protein raftlin modulates T cell receptor signaling and enhances th17-mediated autoimmune responses. J Immunol 2009, 182:5929-5937. 10.4049/jimmunol.0802672, 19414744.
124. Saeki K, Miura Y, Aki D, Kurosaki T, Yoshimura A. The B cell-specific major raft protein, Raftlin, is necessary for the integrity of lipid raft and BCR signal transduction. EMBO J 2003, 22:3015-3026. 10.1093/emboj/cdg293, 162145, 12805216.
125. Annunziato F, Cosmi L, Santarlasci V, Maggi L, Liotta F, Mazzinghi B, Parente E, Filì L, Ferri S, Frosali F, Giudici F, Romagnani P, Parronchi P, Tonelli F, Maggi E, Romagnani S. Phenotypic and functional features of human Th17 cells. J Exp Med 2007, 204:1849-1861. 10.1084/jem.20070663, 2118657, 17635957.
126. Pène J, Chevalier S, Preisser L, Vénéreau E, Guilleux MH, Ghannam S, Molès JP, Danger Y, Ravon E, Lesaux S, Yssel H, Gascan H. Chronically inflamed human tissues are infiltrated by highly differentiated Th17 lymphocytes. J Immunol 2008, 180:7423-7430.
127. Sheu L, Pasyk EA, Ji J, Huang X, Gao X, Varoqueaux F, Brose N, Gaisano HY. Regulation of insulin exocytosis by Munc13-1. J Biol Chem 2003, 278:27556-27563. 10.1074/jbc.M303203200, 12871971.
128. Abdel-Halim SM, Guenifi A, Khan A, Larsson O, Berggren PO, Ostenson CG, Efendić S. Impaired coupling of glucose signal to the exocytotic machinery in diabetic GK rats: a defect ameliorated by cAMP. Diabetes 1996, 45:934-940. 10.2337/diabetes.45.7.934, 8666145.
129. Ling Z, Pipeleers DG. Prolonged exposure of human beta cells to elevated glucose levels results in sustained cellular activation leading to a loss of glucose regulation. J Clin Invest 1996, 98:2805-2812. 10.1172/JCI119108, 507747, 8981928.
130. Betz A, Ashery U, Rickmann M, Augustin I, Neher E, Südhof TC, Rettig J, Brose N. Munc13-1 is a presynaptic phorbol ester receptor that enhances neurotransmitter release. Neuron 1998, 21:123-136. 10.1016/S0896-6273(00)80520-6, 9697857.
131. Rhee JS, Betz A, Pyott S, Reim K, Varoqueaux F, Augustin I, Hesse D, Südhof TC, Takahashi M, Rosenmund C, Brose N. Beta phorbol ester- and diacylglycerol-induced augmentation of transmitter release is mediated by Munc13 s and not by PKCs. Cell 2002, 108:121-133. 10.1016/S0092-8674(01)00635-3, 11792326.
132. Augustin I, Betz A, Herrmann C, Jo T, Brose N. Differential expression of two novel Munc13 proteins in rat brain. Biochem J 1999, 337(Pt 3):363-371. 10.1042/0264-6021:3370363, 1219986, 9895278.
133. Mogami S, Hasegawa G, Nakayama I, Asano M, Hosoda H, Kadono M, Fukui M, Kitagawa Y, Nakano K, Ohta M, Obayashi H, Yoshikawa T, Nakamura N. Killer cell immunoglobulin-like receptor genotypes in Japanese patients with type 1 diabetes. Tissue Antigens 2007, 70:506-510. 10.1111/j.1399-0039.2007.00956.x, 17990989.
134. Shastry A, Sedimbi SK, Rajalingam R, Nikitina-Zake L, Rumba I, Wigzell H, Sanjeevi CB. Combination of KIR 2DL2 and HLA-C1 (Asn 80) confers susceptibility to type 1 diabetes in Latvians. Int J Immunogenet 2008, 35:439-446. 10.1111/j.1744-313X.2008.00804.x, 19046302.
135. Cirulli V, Zalatan J, McMaster M, Prinsen R, Salomon DR, Ricordi C, Torbett BE, Meda P, Crisa L. The class I HLA repertoire of pancreatic islets comprises the nonclassical class Ib antigen HLA-G. Diabetes 2006, 55:1214-1222. 10.2337/db05-0731, 16644675.
136. Eike MC, Becker T, Humphreys K, Olsson M, Lie BA. Conditional analyses on the T1DGC MHC dataset: novel associations with type 1 diabetes around HLA-G and confirmation of HLA-B. Genes Immun 2009, 10:56-67. 10.1038/gene.2008.74, 18830248.
137. Corradi JP, Ravyn V, Robbins AK, Hagan KW, Peters MF, Bostwick R, Buono RJ, Berrettini WH, Furlong ST. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2. Mol Psychiatry 2005, 10:1017-1025. 10.1038/sj.mp.4001713, 16044173.
138. Martín MC, Martinez A, Mendoza JL, Taxonera C, Díaz-Rubio M, Fernández-Arquero M, de la Concha EG, Urcelay E. Influence of the inducible nitric oxide synthase gene (NOS2A) on inammatory bowel disease susceptibility. Immunogenetics 2007, 59:833-837.
139. Singer II, Kawka DW, Scott S, Weidner JR, Mumford RA, Riehl TE, Stenson WF. Expression of inducible nitric oxide synthase and nitrotyrosine in colonic epithelium in inflammatory bowel disease. Gastroenterology 1996, 111:871-885. 10.1016/S0016-5085(96)70055-0, 8831582.
140. Lengyel C, Virág L, Bíró T, Jost N, Magyar J, Biliczki P, Kocsis E, Skoumal R, Nánási PP, Tóth M, Kecskeméti V, Papp JG, Varró A. Diabetes mellitus attenuates the repolarization reserve in mammalian heart. Cardiovasc Res 2007, 73:512-520. 10.1016/j.cardiores.2006.11.010, 17182020.
141. Hoshi N, Takahashi H, Shahidullah M, Yokoyama S, Higashida H. KCR1, a membrane protein that facilitates functional expression of non-inactivating K+ currents associates with rat EAG voltage-dependent K+ channels. J Biol Chem 1998, 273:23080-23085. 10.1074/jbc.273.36.23080, 9722534.
142. Veglio M, Bruno G, Borra M, Macchia G, Bargero G, D'Errico N, Pagano GF, Cavallo-Perin P. Prevalence of increased QT interval duration and dispersion in type 2 diabetic patients and its relationship with coronary heart disease: a population-based cohort. J Intern Med 2002, 251:317-324. 10.1046/j.1365-2796.2002.00955.x, 11952882.
143. Holmkvist J, Banasik K, Andersen G, Unoki H, Jensen TS, Pisinger C, Borch-Johnsen K, Sandbaek A, Lauritzen T, Brunak S, Maeda S, Hansen T, Pedersen O. The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin release following an oral glucose load. PLoS ONE 2009, 4:e5872. 10.1371/journal.pone.0005872, 2689931, 19516902.
144. Belenkaya TY, Wu Y, Tang X, Zhou B, Cheng L, Sharma YV, Yan D, Selva EM, Lin X. The retromer complex influences Wnt secretion by recycling wntless from endosomes to the trans-Golgi network. Dev Cell 2008, 14:120-131. 10.1016/j.devcel.2007.12.003, 18160348.
145. Clevers H. Wnt/beta-catenin signaling in development and disease. Cell 2006, 127:469-480. 10.1016/j.cell.2006.10.018, 17081971.
146. Zandi PP, Belmonte PL, Willour VL, Goes FS, Badner JA, Simpson SG, Gershon ES, McMahon FJ, DePaulo JRJ, Potash JB. Association study of Wnt signaling pathway genes in bipolar disorder. Arch Gen Psychiatry 2008, 65(7):785-93. 10.1001/archpsyc.65.7.785, 18606951.
147. Twells RC, Mein CA, Payne F, Veijola R, Gilbey M, Bright M, Timms A, Nakagawa Y, Snook H, Nutland S, Rance HE, Carr P, Dudbridge F, Cordell HJ, Cooper J, Tuomilehto-Wolf E, Tuomilehto J, Phillips M, Metzker M, Hess JF, Todd JA. Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes. Hum Genet 2003, 113:99-105.
148. Figueroa DJ, Hess JF, Ky B, Brown SD, Sandig V, Hermanowski-Vosatka A, Twells RC, Todd JA, Austin CP. Expression of the type I diabetes-associated gene LRP5 in macrophages, vitamin A system cells, and the Islets of Langerhans suggests multiple potential roles in diabetes. J Histochem Cytochem 2000, 48:1357-1368.
149. Leo D, Adriani W, Cavaliere C, Cirillo G, Marco EM, Romano E, di Porzio U, Papa M, Perrone-Capano C, Laviola G. Methylphenidate to adolescent rats drives enduring changes of accumbal Htr7 expression: implications for impulsive behavior and neuronal morphology. Genes Brain Behav 2009, 8:356-368. 10.1111/j.1601-183X.2009.00486.x, 19243449.
150. Ikeda M, Iwata N, Kitajima T, Suzuki T, Yamanouchi Y, Kinoshita Y, Ozaki N. Positive association of the serotonin 5-HT7 receptor gene with schizophrenia in a Japanese population. Neuropsychopharmacology 2006, 31:866-871. 10.1038/sj.npp.1300901, 16192982.
151. Fernández-Medarde A, Porteros A, de las Rivas J, Núñez A, Fuster JJ, Santos E. Laser microdissection and microarray analysis of the hippocampus of Ras-GRF1 knockout mice reveals gene expression changes affecting signal transduction pathways related to memory and learning. Neuroscience 2007, 146:272-285.
152. Jean L, Risler JL, Nagase T, Coulouarn C, Nomura N, Salier JP. The nuclear protein PH5P of the inter-alpha-inhibitor superfamily: a missing link between poly(ADP-ribose)polymerase and the inter-alpha-inhibitor family and a novel actor of DNA repair?. FEBS Lett 1999, 446:6-8. 10.1016/S0014-5793(99)00173-8, 10100603.
153. Shimokawa H, Rashid M. Development of Rho-kinase inhibitors for cardiovascular medicine. Trends Pharmacol Sci 2007, 28:296-302. 10.1016/j.tips.2007.04.006, 17482681.
154. Blaschke S, Middel P, Dorner BG, Blaschke V, Hummel KM, Kroczek RA, Reich K, Benoehr P, Koziolek M, Müller GA. Expression of activation-induced, T cell-derived, and chemokine-related cytokine/lymphotactin and its functional role in rheumatoid arthritis. Arthritis Rheum 2003, 48:1858-1872. 10.1002/art.11171, 12847680.
155. Yoshida T, Imai T, Kakizaki M, Nishimura M, Takagi S, Yoshie O. Identification of single C motif-1/lymphotactin receptor XCR1. J Biol Chem 1998, 273:16551-16554. 10.1074/jbc.273.26.16551, 9632725.
156. Wang CR, Liu MF, Huang YH, Chen HC. Up-regulation of XCR1 expression in rheumatoid joints. Rheumatology (Oxford) 2004, 43:569-573. 10.1093/rheumatology/keh147, 14970401.
157. Mojarrabi B, Mackenzie PI. Characterization of two UDP glucuronosyltransferases that are predominantly expressed in human colon. Biochem Biophys Res Commun 1998, 247:704-709. 10.1006/bbrc.1998.8843, 9647757.
158. Gupta RP, Hollis BW, Patel SB, Patrick KS, Bell NH. CYP3A4 is a human microsomal vitamin D 25-hydroxylase. J Bone Miner Res 2004, 19:680-688. 10.1359/JBMR.0301257, 15005856.
159. Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 2007, 117:765-772. 10.1172/JCI29089, 1804361, 17332895.
160. McFadden SA. Phenotypic variation in xenobiotic metabolism and adverse environmental response: focus on sulfur-dependent detoxification pathways. Toxicology 1996, 111:43-65. 10.1016/0300-483X(96)03392-6, 8711748.
161. Salman ED, Kadlubar SA, Falany CN. Expression and localization of cytosolic sulfotransferase (SULT) 1A1 and SULT1A3 in normal human brain. Drug Metab Dispos 2009, 37:706-709. 10.1124/dmd.108.025767, 2680540, 19171676.
162. Yasuda S, Yasuda T, Hui Y, Liu MY, Suiko M, Sakakibara Y, Liu MC. Concerted action of the cytosolic sulfotransferase, SULT1A3, and catechol-O-methyltransferase in the metabolism of dopamine in SK-N-MC human neuroblastoma cells. Neurosci Res 2009, 64:273-279. 10.1016/j.neures.2009.03.011, 19447296.
163. Berk M, Dodd S, Kauer-Sant'anna M, Malhi GS, Bourin M, Kapczinski F, Norman T. Dopamine dysregulation syndrome: implications for a dopamine hypothesis of bipolar disorder. Acta Psychiatr Scand Suppl 2007, 41-49. 10.1111/j.1600-0447.2007.01058.x, 17688462.
164. Gainetdinov RR. Mesolimbic dopamine in obesity and diabetes. Am J Physiol Regul Integr Comp Physiol 2007, 293:R601-602.
165. Sardiello M, Cairo S, Fontanella B, Ballabio A, Meroni G. Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. BMC Evol Biol 2008, 8:225. 10.1186/1471-2148-8-225, 2533329, 18673550.
166. Liu ST, Hittle JC, Jablonski SA, Campbell MS, Yoda K, Yen TJ. Human CENP-I specifies localization of CENP-F, MAD1 and MAD2 to kinetochores and is essential for mitosis. Nat Cell Biol 2003, 5:341-345. 10.1038/ncb953, 12640463.
167. Chiba S, Ikeda M, Katsunuma K, Ohashi K, Mizuno K. MST2- and Furry-mediated activation of NDR1 kinase is critical for precise alignment of mitotic chromosomes. Curr Biol 2009, 19:675-681. 10.1016/j.cub.2009.02.054, 19327996.
168. Li L, Shi Y, Wu H, Wan B, Li P, Zhou L, Shi H, Huo K. Hepatocellular carcinoma-associated gene 2 interacts with MAD2L2. Mol Cell Biochem 2007, 304:297-304. 10.1007/s11010-007-9512-8, 17541814.
169. Ito M, Nakano T, Erdodi F, Hartshorne DJ. Myosin phosphatase: structure, regulation and function. Mol Cell Biochem 2004, 259:197-209. 10.1023/B:MCBI.0000021373.14288.00, 15124925.
170. Okamoto R, Kato T, Mizoguchi A, Takahashi N, Nakakuki T, Mizutani H, Isaka N, Imanaka-Yoshida K, Kaibuchi K, Lu Z, Mabuchi K, Tao T, Hartshorne DJ, Nakano T, Ito M. Characterization and function of MYPT2, a target subunit of myosin phosphatase in heart. Cell Signal 2006, 18:1408-1416. 10.1016/j.cellsig.2005.11.001, 16431080.
171. Sato T, Konomi K, Yamasaki S, Aratani S, Tsuchimochi K, Yokouchi M, Masuko-Hongo K, Yagishita N, Nakamura H, Komiya S, Beppu M, Aoki H, Nishioka K, Nakajima T. Comparative analysis of gene expression profiles in intact and damaged regions of human osteoarthritic cartilage. Arthritis Rheum 2006, 54:808-817. 10.1002/art.21638, 16508957.
172. Bleich A, Hopf S, Hedrich HJ, van Lith HA, Li F, Balfour Sartor R, Mähler M. Genetic dissection of granulomatous enterocolitis and arthritis in the intramural peptidoglycan-polysaccharide-treated rat model of IBD. Inamm Bowel Dis 2009, 15:1794-802.
173. Kerr JR. Pathogenesis of parvovirus B19 infection: host gene variability, and possible means and effects of virus persistence. J Vet Med B Infect Dis Vet Public Health 2005, 52:335-339.
174. Cénit M, Blanco-Kelly F, de Las Heras V, Bartolomé M, de la Concha E, Urcelay E, Arroyo R, Marténez A. Glypican 5 is an interferon-beta response gene: a replication study. Mult Scler 2009, 15:913-917.
175. Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, Barkhof F, Radue EW, Lindberg RL, Uitdehaag BM, Johnson MR, Angelakopoulou A, Hall L, Richardson JC, Prinjha RK, Gass A, Geurts JJ, Kragt J, Sombekke M, Vrenken H, Qualley P, Lincoln RR, Gomez R, Caillier SJ, George MF, Mousavi H, Guerrero R, Okuda DT, Cree BA, Green AJ, Waubant E, et al. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet 2009, 18:767-778. 10.1093/hmg/ddn388, 19010793.
176. Nokelainen P, Peltoketo H, Vihko R, Vihko P. Expression cloning of a novel estrogenic mouse 17 beta-hydroxysteroid dehydrogenase/17-ketosteroid reductase (m17HSD7), previously described as a prolactin receptor-associated protein (PRAP) in rat. Mol Endocrinol 1998, 12:1048-1059. 10.1210/me.12.7.1048, 9658408.
177. Ohnesorg T, Keller B, Hrabé de Angelis M, Adamski J. Transcriptional regulation of human and murine 17beta-hydroxysteroid dehydrogenase type-7 confers its participation in cholesterol biosynthesis. J Mol Endocrinol 2006, 37:185-197. 10.1677/jme.1.02043, 16901934.
178. Iams SG, Wexler BC. Inhibition of the development of spontaneous hypertension in SH rats by gonadectomy or estradiol. J Lab Clin Med 1979, 94:608-616.
179. Mercuro G, Zoncu S, Piano D, Pilia I, Lao A, Melis GB, Cherchi A. Estradiol-17beta reduces blood pressure and restores the normal amplitude of the circadian blood pressure rhythm in postmenopausal hypertension. Am J Hypertens 1998, 11:909-913. 10.1016/S0895-7061(98)00096-X, 9715781.
180. Garcia PM, Giménez J, Bonacasa B, Carbonell LF, Miguel SG, Quesada T, Hernández I. 17beta-estradiol exerts a beneficial effect on coronary vascular remodeling in the early stages of hypertension in spontaneously hypertensive rats. Menopause 2005, 12:453-459. 10.1097/01.GME.0000151654.10243.01, 16037761.
181. Pietranera L, Saravia FE, Roig P, Lima A, De Nicola AF. Protective effects of estradiol in the brain of rats with genetic or mineralocorticoid-induced hypertension. Psychoneuroendocrinology 2008, 33:270-281. 10.1016/j.psyneuen.2007.11.009, 18164826.
182. Honigberg L, Kenyon C. Establishment of left/right asymmetry in neuroblast migration by UNC-40/DCC, UNC-73/Trio and DPY-19 proteins in C. elegans. Development 2000, 127:4655-4668.
183. el Gabalawy H, Canvin J, Ma GM, Van der Vieren M, Hoffman P, Gallatin M, Wilkins J. Synovial distribution of alpha d/CD18, a novel leukointegrin. Comparison with other integrins and their ligands. Arthritis Rheum 1996, 39:1913-1921. 10.1002/art.1780391119, 8912515.
184. Highton J, Carlisle B, Palmer DG. Changes in the phenotype of monocytes/macrophages and expression of cytokine mRNA in peripheral blood and synovial fluid of patients with rheumatoid arthritis. Clin Exp Immunol 1995, 102:541-546. 10.1111/j.1365-2249.1995.tb03850.x, 1553364, 8536370.
185. Lisnic B, Svetec IK, Stafa A, Zgaga Z. Size-dependent palindrome-induced intrachromosomal recombination in yeast. DNA Repair (Amst) 2009, 8:383-389. 10.1016/j.dnarep.2008.11.017, 19124276.
186. Sasaoka T, Kimura A, Hohta SA, Fukuda N, Kurosawa T, Izumi T. Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, associated with myocardial infarction in the Japanese. Ann N Y Acad Sci 2001, 947:259-269. 10.1111/j.1749-6632.2001.tb03948.x, 11795274.
187. Elrayess MA, Webb KE, Bellingan GJ, Whittall RA, Kabir J, Hawe E, Syvänne M, Taskinen MR, Frick MH, Nieminen MS, Kesäniemi YA, Pasternack A, Miller GJ, Humphries SE. R643G polymorphism in PECAM-1 influences transendothelial migration of monocytes and is associated with progression of CHD and CHD events. Atherosclerosis 2004, 177:127-135. 10.1016/j.atherosclerosis.2004.06.009, 15488875.
188. Fang L, Wei H, Chowdhury SH, Gong N, Song J, Heng CK, Sethi S, Koh TH, Chatterjee S. Association of Leu125Val polymorphism of platelet endothelial cell adhesion molecule-1 (PECAM-1) gene & soluble level of PECAM-1 with coronary artery disease in Asian Indians. Indian J Med Res 2005, 121:92-99.
189. Schaub MA, Kaplow IM, Sirota M, Do CB, Butte AJ, Batzoglou S. A classifier-based approach to identify genetic similarities between diseases. Bioinformatics 2009, 25:i21-29. 10.1093/bioinformatics/btp226, 2687980, 19477990.
190. Goldstein BI, Fagiolini A, Houck P, Kupfer DJ. Cardiovascular disease and hypertension among adults with bipolar I disorder in the United States. Bipolar Disord 2009, 11:657-662. 10.1111/j.1399-5618.2009.00735.x, 19689508.
191. Ponsonby AL, Lucas RM, van der Mei IA. UVR, vitamin D and three autoimmune diseases-multiple sclerosis, type 1 diabetes, rheumatoid arthritis. Photochem Photobiol 2005, 81:1267-1275. 10.1562/2005-02-15-IR-441, 15971932.
192. Chatterjee M. Vitamin D and genomic stability. Mutat Res 2001, 475:69-87.
193. Grant WB. Hypothesis-ultraviolet-B irradiance and vitamin D reduce the risk of viral infections and thus their sequelae, including autoimmune diseases and some cancers. Photochem Photobiol 2008, 84:356-365. 10.1111/j.1751-1097.2007.00266.x, 18179620.
194. Cousineau I, Abaji C, Belmaaza A. BRCA1 regulates RAD51 function in response to DNA damage and suppresses spontaneous sister chromatid replication slippage: implications for sister chromatid cohesion, genome stability, and carcinogenesis. Cancer Res 2005, 65:11384-11391. 10.1158/0008-5472.CAN-05-2156, 16357146.
195. Jin H, Selfe J, Whitehouse C, Morris JR, Solomon E, Roberts RG. Structural evolution of the BRCA1 genomic region in primates. Genomics 2004, 84:1071-1082. 10.1016/j.ygeno.2004.08.019, 15533724.
196. Puget N, Gad S, Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002, 70:858-865. 10.1086/339434, 379114, 11880951.
197. Staff S, Nupponen NN, Borg A, Isola JJ, Tanner MM. Multiple copies of mutant BRCA1 and BRCA2 alleles in breast tumors from germ-line mutation carriers. Genes Chromosomes Cancer 2000, 28:432-442. 10.1002/1098-2264(200008)28:4<432::AID-GCC9>3.0.CO;2-J, 10862052.
198. Banerjee A, Benedict WF. Production of sister chromatid exchanges by various cancer chemotherapeutic agents. Cancer Res 1979, 39:797-799.
199. Berger SH, Pittman DL, Wyatt MD. Uracil in DNA: consequences for carcinogenesis and chemotherapy. Biochem Pharmacol 2008, 76:697-706. 10.1016/j.bcp.2008.05.019, 2562027, 18599024.
200. Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 2009, 41:1061-1067. 10.1038/ng.437, 2875196, 19718026.
201. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, et al. Global variation in copy number in the human genome. Nature 2006, 444:444-454. 10.1038/nature05329, 2669898, 17122850.
202. Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 2008, 82:685-695. 10.1016/j.ajhg.2007.12.010, 2661628, 18304495.
203. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009, 19:1682-1690. 10.1101/gr.083501.108, 2752118, 19592680.
204. de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 2007, 16:2783-2794. 10.1093/hmg/ddm208, 17666407.
205. Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 2008, 40:1199-1203. 10.1038/ng.236, 2759751, 18776910.
206. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40:1166-1174. 10.1038/ng.238, 18776908.
207. Woodward EJ, Thomas JW. Multiple germline kappa light chains generate anti-insulin B cells in nonobese diabetic mice. J Immunol 2005, 175:1073-1079.
208. Martinet W, Schrijvers DM, De Meyer GR, Herman AG, Kockx MM. Western array analysis of human atherosclerotic plaques: downregulation of apoptosis-linked gene 2. Cardiovasc Res 2003, 60:259-267. 10.1016/S0008-6363(03)00537-6, 14613855.
209. Draviam VM, Shapiro I, Aldridge B, Sorger PK. Misorientation and reduced stretching of aligned sister kinetochores promote chromosome missegregation in EB1- or APC-depleted cells. EMBO J 2006, 25:2814-2827. 10.1038/sj.emboj.7601168, 1500857, 16763565.
210. Ménard V, Eap O, Harvey M, Guillemette C, Lévesque E. Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphism. Hum Mutat 2009, 30:1310-1319.
211. Kobayashi K, Yagasaki M, Harada N, Chichibu K, Hibi T, Yoshida T, Brown WR, Morikawa M. Detection of Fcgamma binding protein antigen in human sera and its relation with autoimmune diseases. Immunol Lett 2001, 79:229-235. 10.1016/S0165-2478(01)00288-7, 11600203.
212. Kuhl A, Melberg A, Meinl E, Nürnberg G, Nürnberg P, Kehrer-Sawatzki H, Jenne DE. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet 2008, 16:367-373. 10.1038/sj.ejhg.5201980, 18197198.
213. Hattori F, Murayama N, Noshita T, Oikawa S. Mitochondrial peroxiredoxin-3 protects hippocampal neurons from excitotoxic injury in vivo. J Neurochem 2003, 86:860-868. 10.1046/j.1471-4159.2003.01918.x, 12887684.
214. Li L, Rasul I, Liu J, Zhao B, Tang R, Premont RT, Suo WZ. Augmented axonal defects and synaptic degenerative changes in female GRK5 deficient mice. Brain Res Bull 2009, 78:145-151. 10.1016/j.brainresbull.2008.09.019, 18955119.
215. Koshelev YA, Kiselev SL, Georgiev GP. Interaction of the S100A4 (Mts1) protein with septins Sept2, Sept6, and Sept7 in vitro. Dokl Biochem Biophys 2003, 391:195-197. 10.1023/A:1025149005902, 14531065.
216. Park KS, Park JH, Song YW. Inhibitory NKG2A and activating NKG2 D and NKG2C natural killer cell receptor genes: susceptibility for rheumatoid arthritis. Tissue Antigens 2008, 72:342-346. 10.1111/j.1399-0039.2008.01110.x, 18700876.
217. Grose RH, Thompson FM, Baxter AG, Pellicci DG, Cummins AG. Deficiency of invariant NK T cells in Crohn's disease and ulcerative colitis. Dig Dis Sci 2007, 52:1415-1422. 10.1007/s10620-006-9261-7, 17420939.